SBMA and HD; New Genetic Study of HD

An article published last month in HDBuzz discusses Huntington's Disease (HD). Since HD and Kennedy's Disease (SBMA) have defects of the CAG genes, there are similarities between the two conditions.

Important drug targets yielded by new genetic study of HD

A genetic study confirms that minute differences in DNA repair genes can influence the age of HD symptom onset.
By Leora Fox on May 02, 2016Edited by Dr Jeff Carroll

It’s a great mystery why different people with the same HD mutation sometimes develop symptoms at vastly different ages. Last year a huge genetic analysis gave us some interesting clues, and now, researchers are focusing in on the most promising results. A recent study shows that tiny changes within genes that repair damaged DNA can have a big effect on age of onset in HD and related diseases.

Pursuing the reasons for different ages of symptom onset

Huntington’s disease is an inherited illness, so a person whose parent or grandparent has the disorder is at risk of developing symptoms one day. Even those who learn they are positive for the HD gene through genetic testing face a great and daunting unknown: when will symptoms begin to develop? ...

... In fact, HD is not the only polyglutamine disorder – several other hereditary illnesses are caused by CAG repeats in different parts of the genome. Two examples are spinocerebellar ataxia (SCA), which involves difficulties with balance and coordination, and spinal bulbar muscular atrophy (SBMA), which usually affects men and causes muscle weakness and hormone imbalances. One similarity between CAG repeat diseases is that longer repeats cause earlier ages of symptom onset. And it turns out that some of the same genetic modifiers that contribute to the timing of HD symptoms play a similar role in other poly-Q diseases. ...

... We don’t yet understand the reasons why such tiny changes in DNA repair genes led to significant discrepancies in age of onset in poly-Q disorders. Nevertheless, it is exciting to unearth direct genetic evidence that a shift in symptom onset is possible. ...

To read the entire article including the section on SBMA, follow this link: https://en.hdbuzz.net/217

Annual Wellness Review

I am an advocate of an annual wellness review. It is another way to help take charge of your personal health.

Fortunately, Medicare, and many health insurance companies, provide this service at no additional cost. I look forward to this event and use it as an opportunity to discuss my general health and any specific issues that have surfaced since the last visit.

Prior to the Checkup

• Personal Observations Document (POD). 
• A week prior to the checkup, I review my daily health journal and previous year’s blood test results. The journal is a record of how I am doing. It includes comments on my strength, stamina, falls, stumbles, accidents, and injuries. I use keywords and highlights for anything abnormal or of concern. 
• For example, am I having phlegm problems, pain, weakness, shortness of breath, etc. Along with the keyword, I briefly describe what happened and what might be the cause or trigger. 
• I develop a draft POD.
• I review the POD with my wife asking if she is aware of anything else I need to include in the Health Review. She always seems to have one or two additional items.  
• After I update the POD, I print two copies, one for me and my doctor.

The Checkup

• My blood pressure, pulse and temperature are checked. 
• All medications I am currently taking including vitamins are reviewed.
• I review with my doctor the Personal Observations Document. 
• This is always a good starting point for further discussions including needed screenings and additional test.
• Besides the normal check of my heart and lungs, my doctor asks a series of questions relevant to a person of my age and condition. 
• Review immunization needs including pneumonia booster, flu shot, etc.
• Blood is drawn. The blood tests are a good indicator of potential ‘red flags’ or early warning signs. It usually takes three-to-five days for the results. 
• I always have my CPK checked – there is no additional cost for this.
• My cholesterol, both good and bad, is also another indicator of changes taking place within your body.  
• I ask for a copy of the blood test results for my records.

Post Checkup

• If needed, schedule additional screenings and tests.
• Review any follow-up items with my wife.
• When the blood test results arrive, I record the results in my Blood Test History spreadsheet. This report dates back to the 1980s. It is an excellent record reflecting trends, both good and bad. I have graphed important indicators like CPK for a visual review of trends.

God bless Caregivers

My wonderful wife has been dealing with Kennedy’s Disease for forty years. When we married, neither of us had a clue what life would be like 20, 30 or 40 years down the road. We never imagined Kennedy’s Disease would become a major part of our life. We were two nature lovers that enjoyed the great outdoors and ranked hiking in the forest or mountains above most everything else. Life was good and it was fairly easy.

Thankfully, she has grown into one efficient caregiver.

Early on, she tried to do too much to help and my ego didn’t appreciate her over-attentiveness. During the middle years, she had to bite her tongue many times when I tried something I was no longer capable of doing—often ending up in a minor or more serious injury. When I fractured both bones in my left leg, she had to put her entire life on hold for ninety days because I couldn’t even transfer without help.

Like me, her role has changed and evolved depending upon my capabilities and attitude. There were times I thought she might want to throw in the towel, but she never did—thankfully.

What amazes me is how efficient and subtle she is. I’ll come into the kitchen in the morning and find a bowl and silverware on the counter. I open the refrigerator and notice she has cooked up a container of noodles or cut up a salad with all the fix’ns. I open the drawer in the bathroom and find a new box of Breathe Right strips. You get the idea. Somehow, almost magically, things are done and items show up to make my life easier.

Just as important, she is ready to give me a good kick in the butt when I need one. I know this news might come as a surprise to you, but I am not always the easiest person to live with. J

So, if I haven’t said it enough today, thank you for being there. Thank you for your patience and support. Thank you for your strength. Most of all, thank you for your love. I am blessed to have you in my life.

Photo:  http://caregiverscomfort.com/

Updated Kennedy's Disease Information

A reader wrote and mentioned MedScape updated the information on Kennedy's Disease last June. I just read through the multi-page report. It is more current and fairly easy to understand. This would be a good recommendation for your doctor should he/she not be familiar with the condition. To read the entire report, you will need to register (free).

Here is the link:  http://emedicine.medscape.com/article/1172604-overview